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Clinical classification and gene mutation of Chinese probands with Charcot-Marie-Tooth disease Analysis of 57 cases 被引量:4
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作者 Ruxu Zhang Xiaobo Li +5 位作者 Xiaohong Zi Shunxiang Huang Fufeng Zhang Kun Xia Qian Pan Beisha Tang 《Neural Regeneration Research》 SCIE CAS CSCD 2011年第9期706-711,共6页
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The pr... Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes (PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2) in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTXl; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis. 展开更多
关键词 Charcot-Marie-Tooth disease clinical classification GENE mutation analysis
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Clinical classification of chronic prostatitis:a preliminary investigation 被引量:3
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作者 Wei-Dong HUANG Pei LIU Wen-Jie HUANG Xinjiang Jiayin Andrology Hospital,Urumuqi 830006,China 《Asian Journal of Andrology》 SCIE CAS CSCD 2000年第4期311-313,共3页
Aim: To propose a practical clinical classification for the chronic prostatitis (CP). Methods: The clinical fea-tures and the findings in the expressed prostatic secretion (EPS) in 804 cases of CP patients were retros... Aim: To propose a practical clinical classification for the chronic prostatitis (CP). Methods: The clinical fea-tures and the findings in the expressed prostatic secretion (EPS) in 804 cases of CP patients were retrospectively ana-lyzed. Results: Four types of CP were identified based on the clinical manifestations and the amounts of whiteblood cells (WBC) and lecithin in EPS. They were the latent type (85 cases; 10.6%), the common type (423 cases;52.6%), the persisting type (104 cases; 12.9%), and the active type (192 cases, 23.9%). The therapeutic efficacyfor these 4 subtypes were 40.4%, 76.8%, 30.8% and 37%, respectively; a statistical difference was noticed be-tween the common type and the persisting type (P < 0.01 ). Conclusion: The method of classification proposed bythe authors may help clinicians in the diagnosis and predicting the prognosis of CP. (Asian J Androl 2000 Dec; 2:311-313) 展开更多
关键词 chronic bacterial prostatitis clinical classification curative efficacy
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Clinical Classification and Treatment Strategy of Hamate Hook Fracture 被引量:2
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作者 熊革 戴鲁飞 +2 位作者 郑炜 孙燕琨 田光磊 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2010年第6期762-766,共5页
To explore the clinical classification of hamate hook fracture and the treatment strategy for different type of fractures,12 patients who suffered from hamate hook fractures were followed up retrospectively.According ... To explore the clinical classification of hamate hook fracture and the treatment strategy for different type of fractures,12 patients who suffered from hamate hook fractures were followed up retrospectively.According to the fracture sites and the prognosis,we classified the hamate hook fractures into 3 types.Type Ⅰ referred to an avulsion fracture at the tip of hamate hook,type Ⅱ was a fracture in the middle part of hamate hook,and type Ⅲ represented a fracture at the base of hamate hook.By the classification,in our series,only 1 fell into type Ⅰ,7 type Ⅱ,and 4 type Ⅲ.The results were evaluated with respect to the functional recovery,recovery time and the association among the clinical classification,pre-operative complications and treatment results.The average follow-up time of this group was 8.4±3.9 months.Two cases were found to have fracture non-union and both of them were type Ⅱ fractures.Six patients had complications before operation.Five cases were type Ⅱ fractures and 1 case type Ⅲ fracture.All the patients were satisfied with the results at the time of the last follow-up.Their pain scale and grip strength improved significantly after treatment.All the pre-operative complications were relieved.The recovery time of hamate hook excision was significantly shorter than that of the other two treatments.The incidences of both pre-operative complications and non-union in type Ⅱ fractures were higher than those in type Ⅰ and type Ⅲ fractures.It was concluded that,generally,the treatment effects with hamate hook fracture are quite good.The complication incidence and prognosis of the fracture are closely related to the clinical classification.Early intervention is critical for type Ⅱ fractures. 展开更多
关键词 hamate hook fracture clinical classification TREATMENT FOLLOW-UP
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Evaluation of the Sensitivity and Specificity of the New Clinical Diagnostic and Classification Criteria for Kashin-Beck Disease,an Endemic Osteoarthritis,in China 被引量:8
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作者 YU Fang Fang PING Zhi Guang +3 位作者 YAO Chong WANG Zhi Wen WANG Fu Qi GUO Xiong 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2017年第2期150-155,共6页
This study aimed to evaluate the sensitivity and specificity of the new clinical diagnostic and classification criteria for Kashin-Beck disease (KBD) using six clinical markers: flexion of the distal part of finger... This study aimed to evaluate the sensitivity and specificity of the new clinical diagnostic and classification criteria for Kashin-Beck disease (KBD) using six clinical markers: flexion of the distal part of fingers, deformed fingers, enlarged finger joints, shortened fingers, squat down, and dwarfism. One-third of the total population in Linyou County was sampled by stratified random sampling. 展开更多
关键词 KBD in China Evaluation of the Sensitivity and Specificity of the New clinical Diagnostic and classification Criteria for Kashin-Beck Disease
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Reliability and validity of sub-axial injury classification in clinical application
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作者 马君 《外科研究与新技术》 2011年第2期84-84,共1页
Objective To evaluate the clinical reliability and validity of the sub-axial injury classification (SLIC) system proposed by the Spine Trauma Study Group (STSG) in 2007. Methods Thirty cases of cervical injury were ra... Objective To evaluate the clinical reliability and validity of the sub-axial injury classification (SLIC) system proposed by the Spine Trauma Study Group (STSG) in 2007. Methods Thirty cases of cervical injury were randomly chosen 展开更多
关键词 SLIC Reliability and validity of sub-axial injury classification in clinical application ICC
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Barcelona Clinic Liver Cancer Classification and Treatment of Hepatocellular Carcinoma in a Côte d’Ivoire University Hospital
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作者 Kissi Anzouan-Kacou Henriette Ya Bangoura Aboubacar Demba +4 位作者 Kouame Dimitri Doffou Stanislas Adjeka Mahassadi Kouame Alassan Yao Bathaix Fulgence Mamert Attia Alain Koffi 《Open Journal of Gastroenterology》 2023年第10期319-327,共9页
Context/Objectives: Hepatocellular carcinoma occurs mainly and increasingly in developing countries, where the prognosis is particularly poor. The Barcelona Clinic Liver Cancer classification is used to guide the trea... Context/Objectives: Hepatocellular carcinoma occurs mainly and increasingly in developing countries, where the prognosis is particularly poor. The Barcelona Clinic Liver Cancer classification is used to guide the treatment of hepatocellular carcinoma. The aim of this retrospective study was to describe the Barcelona Clinic Liver Cancer classification and the treatment of hepatocellular carcinoma in a University Hospital in Côte d’Ivoire. Methods: Patients with hepatocellular carcinoma hospitalized in the hepato-gastroenterology unit of the University Hospital of Yopougon from 01 January 2012 to 30 June 2017 were included. The diagnosis of hepatocellular carcinoma was based on the presence of hepatic nodules on the abdominal ultrasound scan, typical images with the helical scanner associated or not with an increase of the α-fetoprotein higher than 200 ng/ml or with histology. Demographic, clinical, biological and radiological data were determined at the time of diagnosis. Patients were classified according to the Barcelona Clinic Liver Cancer classification. Their treatment was specified. Results: There were 258 patients whose median age was 48.1 years. Viral hepatitis B virus was the primary cause of hepatocellular carcinoma in 64.7% of cases. The severity of the underlying cirrhosis was Child-Pugh A in 12.1%, B in 63.6% and C in 24.3% of cases. The median size of the tumor was 63 mm. The α-fetoprotein level was higher than 200 mg/ml in 56.03% of cases. The Eastern Cooperative Oncology Group (ECOG)/World Health Organization (WHO) system was ≥2 in 82.9%. The Barcelona Clinic Liver Cancer classification was A in 1.3%, B in 0%, C in 55.2% and D in 43.5% of patients. There was no transplantation or hepatic resection. Very few patients (1.9%) received radio-frequency curative therapy. The treatment was predominantly symptomatic in 97.8% of patients. During hospitalization 43.7% of patients died. Conclusion: Hepatocellular carcinoma occurs on a liver with severe cirrhosis at a late stage. This does not allow cure treatment and explains a high mortality rate during hospitalization. Hepatitis B virus is the main risk factor and immunization at birth will reduce the incidence of this cancer in Africa. 展开更多
关键词 Hepatocellular Carcinoma Barcelona Clinic Liver Cancer classification Viral Hepatitis B AFRICA
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Trend in gastric cancer:35 years of surgical experience in Japan 被引量:12
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作者 Keishi Yamashita Shinichi Sakuramoto +5 位作者 Masayuki Nemoto Tomotaka Shibata Hiroaki Mieno Natsuya Katada Shiroh Kikuchi Masahiko Watanabe 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第29期3390-3397,共8页
AIM:To investigate the trend in gastric cancer surgery in the context of rapid therapeutic advancement in Japan and East Asia.METHODS:A retrospective analysis was performed on 4163 patients who underwent gastric resec... AIM:To investigate the trend in gastric cancer surgery in the context of rapid therapeutic advancement in Japan and East Asia.METHODS:A retrospective analysis was performed on 4163 patients who underwent gastric resection for gastric cancer with histological confirmation between 1971 and 2007 at the surgical unit in Kitasato University Hospital,to determine the trend in gastric cancer requiring surgery.RESULTS:Gastric cancer requiring surgical resection increased in our hospital,but the incidence adjusted for population was constant during the observed pe-riod.Interestingly,the ratio of diffuse type/intestinal type gastric cancer was unexpectedly unchanged,and that of advanced/early gastric cancer(EGC)was,however,markedly reduced,while the actual incidence of potentially curative advanced gastric cancer tended to decrease.The incidence of EGC requiring surgery tended to increase as a whole,which is consistent with increased prevalence of endoscopic surveillance.As a result,overall survival and mortality of gastric cancer requiring gastric resection has recently markedly improved.CONCLUSION:In Japan,planned interventions may improve surgical gastric cancer mortality,but an unexpected trend of persistent existence of intestinal type cancer suggests the need for more robust medical intervention. 展开更多
关键词 HISTOLOGY Age factors clinical classification PROGNOSIS Disease progression Gastric cancer
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Treatment Strategy for Post-Hepatectomy Recurrent Hepatocellular Carcinoma: A Single Center Experience with 556 Consecutive Cases in China
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作者 Jing Li Liang Huang +4 位作者 Caifeng Liu Maixuan Qiu Jianjun Yan Shaohua Wei Yiqun Yan 《Journal of Cancer Therapy》 2020年第7期389-400,共12页
<strong>Background:</strong><span><span><span style="font-family:""><span style="font-family:Verdana;"> Treatment strategy for recurrent hepatocellular carc... <strong>Background:</strong><span><span><span style="font-family:""><span style="font-family:Verdana;"> Treatment strategy for recurrent hepatocellular carcinoma (HCC) remains scantily defined. This study was aimed to establish a treatment strategy to manage post-hepatectomy recurrent HCC and report the clinical outcomes. </span><b><span style="font-family:Verdana;">Methods: </span></b><span style="font-family:Verdana;">From January 2006 to December 2016, 556 consecutive patients who developed post-hepatectomy HCC recurrence were enrolled in the study. The patients were clinically stratified and treated according to a strategy established by a multi-disciplinary team. Clinical data and survival times were collected prospectively and analyzed retrospectively. </span><b><span style="font-family:Verdana;">Results: </span></b><span style="font-family:Verdana;">According to the strategy, there were 298 (53.6%), 214 (38.5%), 32 (5.7%) and 12 (2.2%) patients stratified into Early, Intermediate, Advanced and Terminal stages, respectively. In Early stage patients, 164 (55.0%) received curative treatment in the form of repeat resection or local ablation, 134 (45.0%) received transarterial chemoe</span><span style="font-family:Verdana;">mbolization (TACE), and the 1-, 3-, and 5-year overall survival (OS) rates were 82.0%, 46.8% and 37.3%, respectively. In Intermediate stage patients, 207 (96.7%) received TACE, 7 (3.3%) radiotherapy, and the 1-, 3-, and 5-year OS rates were 73.2%, 31.8% and 15.9%, respectively. In Advanced stage patients, 22 patients received sorafenib, 10 radiotherapy, and the mean survival time (MST) was 25.1 ± 3.1 months. All the 12 patients in Terminal stage rece</span><span style="font-family:Verdana;">ived the best supportive treatment, and the MST was 6.5 ± 3.4 months. Clinical stages and duration of disease-free interval were independent factors relating to overall survival. </span><b><span style="font-family:Verdana;">Conclusions: </span></b><span style="font-family:Verdana;">A treatment strategy derived from the Barcelona Clinic Liver Cancer staging system, with some modifications, has been successfully established to manage post-hepatectomy recurrent HCC, and the clinical outcomes were commendable.</span></span></span></span> 展开更多
关键词 Post-Hepatectomy Recurrent Hepatocellular Carcinoma clinical classification Treatment Strategy clinical Outcomes
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View Point on Severe Fever with Thrombocytopenia Syndrome
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作者 Ji-bin Ye Chuan-Song Hu +1 位作者 Tai-Sheng Li Li Fang 《国际感染病学(电子版)》 CAS 2013年第3期141-144,共4页
Severe fever with thrombocytopenia syndrome (SFTS), a new disease of zoonotic natural foci has been increasing in recent years. In this review, the disease of human granulocytic anaplasmosis infection due to tick-born... Severe fever with thrombocytopenia syndrome (SFTS), a new disease of zoonotic natural foci has been increasing in recent years. In this review, the disease of human granulocytic anaplasmosis infection due to tick-borne and new Bunia virus infection, have similar clinical symptoms. Total of 11 articles were retrieved. The emergence, etiology, nomenclature and pathogenic mechanisms, clinical diagnosis and genotyping of SFTS were summarized, and the current situation of treatment was also evaluated. In conclusion, early detection, identiifcation and treatment are the key points to SFTS, but how to reduce the mortality of critically ill patients is still the focus in the future. 展开更多
关键词 Severe fever with thrombocytopenia syndrome New Bunia virus clinical classification
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Does the ratio of the carpal tunnel inlet and outlet cross-sectional areas in the median nerve reflect carpal tunnel syndrome severity? 被引量:6
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作者 Li Zhang Aierken Rehemutula +3 位作者 Feng Peng Cong Yu Tian-bin Wang Lin Chen 《Neural Regeneration Research》 SCIE CAS CSCD 2015年第7期1172-1176,共5页
Although ultrasound measurements have been used in previous studies on carpal tunnel syndrome to visualize injury to the median nerve, whether such ultrasound data can indicate the severity of carpal tunnel syndrome r... Although ultrasound measurements have been used in previous studies on carpal tunnel syndrome to visualize injury to the median nerve, whether such ultrasound data can indicate the severity of carpal tunnel syndrome remains controversial. The cross-sectional areas of the median nerve at the tunnel inlet and outlet can show swelling and compression of the nerve at the carpal. We hypothesized that the ratio of the cross-sectional areas of the median nerve at the carpal tunnel inlet to outlet accurately reflects the severity of carpal tunnel syndrome. To test this, high-resolution ultrasound with a linear array transducer at 5–17 MHz was used to assess 77 patients with carpal tunnel syndrome. The results showed that the cut-off point for the inlet-to-outlet ratio was 1.14. Significant differences in the inlet-to-outlet ratio were found among patients with mild, moderate, and severe carpal tunnel syndrome. The cut-off point in the ratio of cross-sectional areas of the median nerve was 1.29 between mild and more severe(moderate and severe) carpal tunnel syndrome patients with 64.7% sensitivity and 72.7% specificity. The cut-off point in the ratio of cross-sectional areas of the median nerve was 1.52 between the moderate and severe carpal tunnel syndrome patients with 80.0% sensitivity and 64.7% specificity. These results suggest that the inlet-to-outlet ratio reflected the severity of carpal tunnel syndrome. 展开更多
关键词 nerve regeneration peripheral nerve injury ultrasonography carpal tunnel syndrome diagnosis cross-sectional area classification clinical laboratory technique electrodiagnosis median nerve 973 Program neural regeneration
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Current opinions on the mechanism,classification,imaging diagnosis and treatment of post-traumatic osteomyelitis 被引量:4
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作者 Jian Yang Jiang-Ling Yao +5 位作者 Zi-Quan Wu De-Lu Zeng Lin-Yang Zheng Dong Chen Zheng-Dong Guo Lei Peng 《Chinese Journal of Traumatology》 CAS CSCD 2021年第6期320-327,共8页
Post-traumatic osteomyelitis(PTO)is a worldwide problem in the field of orthopaedic trauma.So far,there is no ideal treatment or consensus-based gold standard for its management.This paper reviews the representative l... Post-traumatic osteomyelitis(PTO)is a worldwide problem in the field of orthopaedic trauma.So far,there is no ideal treatment or consensus-based gold standard for its management.This paper reviews the representative literature focusing on PTO,mainly from the following four aspects:(1)the pathophysiological mechanism of PTO and the interaction mechanism between bacteria and the body,including fracture stress,different components of internal fixation devices,immune response,occurrence and development mechanisms of inflammation in PTO,as well as the occurrence and development mechanisms of PTO in skeletal system;(2)clinical classification,mainly the etiological classification,histological classification,anatomical classification and the newly proposed new classifications(a brief analysis of their scope and limitations);(3)imaging diagnosis,including non-invasive examination and invasive examination(this paper discusses their advantages and disadvantages respectively,and briefly compares the sensitivity and effectiveness of the current examinations);and(4)strategies,including antibiotic administration,surgical choices and other treatment programs.Based on the above-mentioned four aspects,we try to put forward some noteworthy sections,in order to make the existing opinions more specific. 展开更多
关键词 OSTEOMYELITIS Bone infection Post-traumatic osteomyelitis PATHOLOGY DIAGNOSIS clinical classification Treatment
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Risk factors for postoperative recurrence of cardiac myxoma and the clinical managements: a report of 5 cases in one center and review of literature 被引量:6
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作者 SHENG Wen-bo LUO Bei-er +5 位作者 LiU Yang ZHANG Hao ZOU Liang-jian XU Zhi-yun ZHANG Hai-yan JI Guang-yu 《Chinese Medical Journal》 SCIE CAS CSCD 2012年第16期2914-2918,共5页
Background Recurrence or metastasis of myxomas is not rare risk factors for postoperative cardiac myxoma recurrence and to classification. and can lead to malignancy. We aimed to analyze the summarize its clinical cha... Background Recurrence or metastasis of myxomas is not rare risk factors for postoperative cardiac myxoma recurrence and to classification. and can lead to malignancy. We aimed to analyze the summarize its clinical characteristics, treatments and Methods The clinical data of 5 patients with recurrent cardiac myxoma were retrospectively analyzed and our clinical experience was summarized. Moreover, the relevant literatures were reviewed. Results All the five cases of primary myxomas were derived from atypical positions. One patient had early distant metastasis, one had family history, and two suffered malignant recurrence. The recurrence interval was (2.30+2.16) years and the recurrent tumors were all found in different chambers from those of the corresponding primary tumors. Re-operation was performed after recurrence. One patient died of heart failure after malignant recurrence, and the other 4 cases had satisfactory therapeutic outcomes after re-operations. Our experience advocated a clinical classification of "typical" and "atypical" cardiac myxoma, the typical myxomas referred to the tumors locating at the left atria, with single pedicle, rooted at or around the fossa ovalis, involving no genetic causes, and the atypical myxomas included the familial tumors, tumors stemming from multiple chambers, rooted in abnormal positions of the left atrium, with evident genetic mutation, or with malignant tendency. 展开更多
关键词 cardiac myxoma recurrence classification clinical management
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